Zobrazeno 1 - 10
of 184
pro vyhledávání: '"Miriam A Smith"'
Autor:
Miriam A Smith, Regine Cherazard, Alice Fornari, Patti Adelman, Michelle Snopkowski, Martin Lesser
Publikováno v:
Medical Education Online, Vol 23, Iss 1 (2018)
We have challenges with poor patient satisfaction scores (Hospital Consumer Assessment of Healthcare Providers and Systems [HCAHPS]) and internal medicine resident (IMR) evaluations of voluntary attending physicians. Using an Observed Structured Teac
Externí odkaz:
https://doaj.org/article/8fa87294730f477c8bfc12b1b4be5178
Autor:
D. Gareth Evans, Emma R. Woodward, George J. Burghel, Sophie Allen, Beth Torr, Monica Hamill, Grace Kavanaugh, Mike Hubank, Stephen Bremner, Christopher I. Jones, Helene Schlecht, Susan Astley, Sarah Bowers, Sarah Gibbons, Helen Ruane, Caroline Fosbury, Sacha J. Howell, Claire Forde, Fiona Lalloo, William G. Newman, Miriam J. Smith, Anthony Howell, Clare Turnbull, Ashu Gandhi
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100849- (2024)
Purpose: To assess the contribution of germline pathogenic variants (PVs) in population-based series of breast cancers and the best strategy to improve detection rates. Methods: Three cohort studies were utilized, including a hospital-based series id
Externí odkaz:
https://doaj.org/article/3e798b711ae8405f937d2e6d36c02588
Autor:
Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Upstream open reading frames (uORFs), located in 5’ untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically ass
Externí odkaz:
https://doaj.org/article/a1456bc16ed6477cb17105e2253718e3
Autor:
Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Hardman-Smart, Derek Pye, Antonio Torrelo, Glenda M. Beaman, Marcelo G. Kazanietz, Martin J. Baker, Carlo Ferrazzano, Chenfu Shi, Gisela Orozco, Stephen Eyre, Michel van Geel, Anette Bygum, Judith Fischer, Zosia Miedzybrodzka, Faris Abuzahra, Albert Rübben, Sara Cuvertino, Jamie M. Ellingford, Miriam J. Smith, D. Gareth Evans, Lizelotte J.M.T. Weppner-Parren, Maurice A.M. van Steensel, Iskander H. Chaudhary, D. Chas Mangham, John T. Lear, Ralf Paus, Jorge Frank, William G. Newman, Xue Zhang
Publikováno v:
British Journal of Dermatology, 187(6), 948-961. Wiley
Background Bazex–Dupré–Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce266f5315a5c98055d5aabca2e9efeb
https://doi.org/10.1111/bjd.21842
https://doi.org/10.1111/bjd.21842
Autor:
Cemsel Bafligil, Deborah J. Thompson, Artitaya Lophatananon, Neil A.J. Ryan, Miriam J. Smith, Joe Dennis, Krisztina Mekli, Tracy A. O’Mara, D. Gareth Evans, Emma J. Crosbie
Publikováno v:
Genetics in Medicine. 24:1847-1856
Single-nucleotide variations (SNVs) (formerly single-nucleotide polymorphism [SNV]) influence genetic predisposition to endometrial cancer. We hypothesized that a polygenic risk score (PRS) comprising multiple SNVs may improve endometrial cancer risk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c229210434b2f6b64f1b82c4f0fcbfcf
https://doi.org/10.1016/j.gim.2022.05.014
https://doi.org/10.1016/j.gim.2022.05.014
Autor:
Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, Pascal Joly, Justin T. Jordan, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh
Publikováno v:
Genetics in Medicine, 24(9), 1967-1977. Lippincott Williams & Wilkins
PURPOSE: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af050a10db9d27e206369bb2b357dc2
https://pure.eur.nl/en/publications/502b5714-4be0-4958-9a29-b8eb1490dc2c
https://pure.eur.nl/en/publications/502b5714-4be0-4958-9a29-b8eb1490dc2c
Autor:
D Gareth Evans, George J Burghel, Helene Schlecht, Elaine F Harkness, Ashu Gandhi, Sacha J Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G Newman, Miriam Jane Smith, Emma Roisin Woodward
Publikováno v:
Evans, D G, Burghel, G J, Schlecht, H, Harkness, E F, Gandhi, A, Howell, S J, Howell, A, Forde, C, Lalloo, F, Newman, W G, Smith, M J & Woodward, E R 2023, ' Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2023-109196
PurposeTo investigate the frequency of germline pathogenic variants (PVs) in women with bilateral breast cancer.MethodsWe undertookBRCA1/2andCHEK2c.1100delC molecular analysis in 764 samples and a multigene panel in 156. Detection rates were assessed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42e860400de5ccb1fe9afaacddc39578
https://research.manchester.ac.uk/en/publications/f25b9fb4-cc44-4af4-a68c-3c17a503ffd0
https://research.manchester.ac.uk/en/publications/f25b9fb4-cc44-4af4-a68c-3c17a503ffd0
Publikováno v:
Familial Cancer.
Recent genetic sequencing studies in large series’ of predominantly childhood medulloblastoma have implicated loss-of-function, predominantly truncating, variants in the ELP1 and GPR161 genes in causation of the MBSHH subtype specifically. The latt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6854100bcc1c85f2b56f9a22486c2de
https://doi.org/10.1007/s10689-023-00330-7
https://doi.org/10.1007/s10689-023-00330-7
Autor:
Katherine V. Sadler, Charlie F. Rowlands, Philip T. Smith, Claire L. Hartley, Naomi L. Bowers, Nicola Y. Roberts, Jade L. Harris, Andrew J. Wallace, D. Gareth Evans, Ludwine M. Messiaen, Miriam J. Smith
Publikováno v:
Human Mutation. 43:643-654
Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary of NF2 mis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::099e3594389d642b306ea5ddadb14c36
https://doi.org/10.1002/humu.24370
https://doi.org/10.1002/humu.24370
Autor:
Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21052-3
Externí odkaz:
https://doaj.org/article/95ff9daf50d0425fbdccd286a23ed83e